Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

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Mutations in GMPPB Presenting with Pseudometabolic Myopathy.Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

P2860

Q52096875-CF2DBD2E-63C5-4E4A-885B-71F156C1A9E7 Q58695079-054EBF36-6856-4D18-A267-9FD2B0AE8122

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Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

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http://www.wikidata.org/entity/Q37334305

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article científic

@ca

article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 11 October 2016

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

@en

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency

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type

Item

label

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

@en

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency

@nl

prefLabel

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

@en

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency

@nl

P1476

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

@en

P2093

C Bouchet-Seraphin

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C Thomsen

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F Leturcq

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G Solé

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J Nectoux

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J Vissing

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M Cossée

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S T Oestergaard

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T Stojkovic

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P2860

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity.

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

Genetic basis of limb-girdle muscular dystrophies: the 2014 update

The evolution of the dystroglycan complex, a major mediator of muscle integrity.

A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy.

Expanding the phenotype of GMPPB mutations.

A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans.

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).

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e112

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scholarly article

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10.1212/NXG.0000000000000112

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Thomas Krag

Julia R Dahlqvist

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2016-10-11T00:00:00Z

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Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

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P2860

P2860

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932